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NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 5, 2020
Accession:
VCV000129707.6
Variation ID:
129707
Description:
single nucleotide variant
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NM_001164508.2(NEB):c.11729A>G (p.Asp3910Gly)

Allele ID
135153
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q23.3
Genomic location
2: 151612262 (GRCh38) GRCh38 UCSC
2: 152468776 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_202:g.127226A>G
LRG_202t1:c.11729A>G
NC_000002.12:g.151612262T>C
... more HGVS
Protein change
D3910G, D3667G
Other names
-
Canonical SPDI
NC_000002.12:151612261:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00739 (C)

Allele frequency
1000 Genomes Project 0.00739
Trans-Omics for Precision Medicine (TOPMed) 0.01301
Exome Aggregation Consortium (ExAC) 0.01493
The Genome Aggregation Database (gnomAD) 0.01535
The Genome Aggregation Database (gnomAD), exomes 0.01469
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01696
Links
ClinGen: CA153884
dbSNP: rs35740585
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Jan 24, 2020 RCV000117722.7
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Dec 5, 2020 RCV000549434.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NEB - - GRCh38
GRCh37
3723 4645

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000307196.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Feb 29, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000522834.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Mar 28, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: unknown
Counsyl
Accession: SCV000798891.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (1)
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001294564.1
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 24, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Athena Diagnostics Inc
Accession: SCV001476571.1
Submitted: (Dec 30, 2020)
Evidence details
Publications
PubMed (1)
Benign
(Dec 05, 2020)
criteria provided, single submitter
Method: clinical testing
Nemaline myopathy 2
Allele origin: germline
Invitae
Accession: SCV000640508.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal recessive inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000151970.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples. Savarese M Acta neuropathologica communications 2014 PMID: 25214167

Text-mined citations for rs35740585...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Oct 30, 2021